Varaico: Literature-Extracted Genetic Variants

CDH1

2,725 papers

RefSeq Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically ...

Pfam Domains

Cadherin_proaa 27–116UCSCCadherin prodomain like

Cadherinaa 159–253UCSCCadherin domain

Cadherinaa 267–366UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 1

HGNC Previous Symbol

UVO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004360.5

p.L652W

c.1955T>G

Surrounding Variants

2 papers

NM_004360.5

p.L652*

c.1955T>A

3 papers

NM_004360.5

p.L652fs

c.1954_1955fs

1 paper

NM_004360.5

p.I651V

c.1951A>G

2 papers

NM_004360.5

p.L652delFs

c.1955delT

1 paper

NM_004360.5

p.I651fs

c.1951_1952fs

1 paper

NM_004360.5

p.I650M

c.1950C>G

1 paper

NM_004360.5

p.I650I

c.1950C>T

1 paper

NM_004360.5

p.P654S

c.1960C>T

9 papers

NM_004360.5

p.I650fs

c.1948_1949fs

1 paper

NM_004360.5

p.I650V

c.1948A>G

2 papers

NM_004360.5

p.I650fs

c.1948_1949fs

3 papers

NM_004360.5

p.K655delFs

c.1965delG